Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_006017.3(PROM1):c.*1143A>C | 8842 | PROM1 | Uncertain significance | 544424652 | RCV001149731|RCV001149732|RCV001149733|RCV001149734; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON | 4 | 15969873 | 15969873 | | | 4:g.15969873T>G | - | | |
NM_006017.3(PROM1):c.*1052G>A | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 577484119 | RCV000271338|RCV000306689|RCV000328709|RCV000363732; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15969964 | 15969964 | | | 4:g.15969964C>T | ClinGen:CA10618184 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.*963A>G | 8842 | PROM1 | Uncertain significance | 886059196 | RCV000265688|RCV000323028|RCV000358063|RCV000380018; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON | 4 | 15970053 | 15970053 | | | 4:g.15970053T>C | ClinGen:CA10620363 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.*781G>A | 8842 | PROM1 | Uncertain significance | 1713636052 | RCV001145504|RCV001149842|RCV001149843|RCV001149844; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15970235 | 15970235 | | | 4:g.15970235C>T | - | | |
NM_006017.3(PROM1):c.*684C>T | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 140362696 | RCV000278098|RCV000281713|RCV000316805|RCV000373870; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15970332 | 15970332 | | | 4:g.15970332G>A | ClinGen:CA10618194 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.*681C>G | 8842 | PROM1 | Uncertain significance | 947805890 | RCV001145505|RCV001145506|RCV001145507|RCV001147454; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15970335 | 15970335 | | | 4:g.15970335G>C | - | | |
NM_006017.3(PROM1):c.*667A>C | 8842 | PROM1 | Benign | 2240688 | RCV000294834|RCV000348387|RCV000352014|RCV000386635|RCV001660729; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15970349 | 15970349 | | | 4:g.15970349T>G | ClinGen:CA10617331 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.*640T>A | 8842 | PROM1 | Uncertain significance | 1713667197 | RCV001147455|RCV001147457|RCV001147456|RCV001148385; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND | 4 | 15970376 | 15970376 | | | 4:g.15970376A>T | - | | |
NM_006017.3(PROM1):c.*198T>C | 8842 | PROM1 | Uncertain significance | 1713762475 | RCV001149945|RCV001149947|RCV001149946|RCV001149948; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND | 4 | 15970818 | 15970818 | | | 4:g.15970818A>G | - | | |
NM_006017.3(PROM1):c.*189A>G | 8842 | PROM1 | Uncertain significance | 537324748 | RCV001145609|RCV001149949|RCV001149950|RCV001149951; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15970827 | 15970827 | | | 4:g.15970827T>C | - | | |
NM_006017.3(PROM1):c.*107G>T | 8842 | PROM1 | Uncertain significance | 1024479425 | RCV001145612|RCV001145613|RCV001145610|RCV001145611; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON | 4 | 15970909 | 15970909 | | | 4:g.15970909C>A | - | | |
NM_006017.3(PROM1):c.2582+43C>T | 8842 | PROM1 | Benign | 11725522 | RCV001709322|RCV001789544|RCV001789546|RCV001789545|RCV001789547; | N | MedGen:C3661900|MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orp | 4 | 15980975 | 15980975 | | | 15980975 | - | | |
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 747844753 | RCV000261335|RCV000318837|RCV000353914|RCV000375741|RCV001861228; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15981022 | 15981022 | | | 4:g.15981022T>C | ClinGen:CA2866319 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) | 8842 | PROM1 | Uncertain significance | 201910962 | RCV000274437|RCV000296764|RCV000331908|RCV000388672|RCV001301011; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND | 4 | 15981049 | 15981049 | | | 4:g.15981049C>T | ClinGen:CA2866323 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) | 8842 | PROM1 | Uncertain significance | 534529507 | RCV000291042|RCV000339072|RCV000344815|RCV000383008; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON | 4 | 15981509 | 15981509 | | | 4:g.15981509C>T | ClinGen:CA10620364 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2489+8T>C | 8842 | PROM1 | Uncertain significance | 1433533825 | RCV001148499|RCV001148497|RCV001148498|RCV001150065; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND | 4 | 15982037 | 15982037 | | | 4:g.15982037A>G | - | | |
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 146434364 | RCV001150066|RCV001150067|RCV001150068|RCV001150069|RCV001326315; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15982049 | 15982049 | | | 4:g.15982049C>T | - | | |
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) | 8842 | PROM1 | Uncertain significance | 886059198 | RCV000298975|RCV000335189|RCV000392496|RCV000401717; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON | 4 | 15982054 | 15982054 | | | 4:g.15982054A>G | ClinGen:CA10620367 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2373+13C>G | 8842 | PROM1 | Uncertain significance | 886059199 | RCV000278589|RCV000318449|RCV000342928|RCV000373139; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND | 4 | 15985873 | 15985873 | | | 4:g.15985873G>C | ClinGen:CA10618195 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 551849678 | RCV000283949|RCV000339031|RCV000399730|RCV000399383|RCV001442000; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15985895 | 15985895 | | | 4:g.15985895G>A | ClinGen:CA2866416 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 202029748 | RCV000274073|RCV000319916|RCV000355970|RCV000368747|RCV000839749; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON | 4 | 15985975 | 15985975 | | | NC_000004.11:g.15985975T>C | ClinGen:CA2866434 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2281-5C>G | 8842 | PROM1 | Uncertain significance | 777654968 | RCV000260970|RCV000285875|RCV000316222|RCV000380196|RCV001247620; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON | 4 | 15985983 | 15985983 | | | NC_000004.11:g.15985983G>C | ClinGen:CA2866438 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2281-6C>G | 8842 | PROM1 | Benign | 3815344 | RCV000081347|RCV000291850|RCV000322412|RCV000346832|RCV000377008|RCV000826342|RCV001789128; | N | MedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00 | 4 | 15985984 | 15985984 | | | NC_000004.11:g.15985984G>C | ClinGen:CA148436 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2211+7C>T | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 372262346 | RCV000300221|RCV000312096|RCV000366791|RCV000391793|RCV001455863; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND | 4 | 15987573 | 15987573 | | | NC_000004.11:g.15987573G>A | ClinGen:CA2866473 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 199727800 | RCV001146428|RCV001146430|RCV001146429|RCV001229010|RCV001149203; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MedG | 4 | 15989322 | 15989322 | | | 4:g.15989322G>T | - | | |
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) | 8842 | PROM1 | Uncertain significance | 530749007 | RCV001149204|RCV001149205|RCV001149206|RCV001149207|RCV002557210; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND | 4 | 15991381 | 15991381 | | | 4:g.15991381G>C | - | | |
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 149028760 | RCV000081346|RCV000296436|RCV000351307|RCV000326660|RCV000381327|RCV000892544; | N | MedGen:CN169374|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00 | 4 | 15992851 | 15992851 | | | 4:g.15992851G>A | ClinGen:CA148434 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 761911901 | RCV000487979|RCV000765764|RCV001199723|RCV003236583|RCV003338612; | N | MedGen:C3661900|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827; MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791; MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640; MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,Orp | 4 | 15992882 | 15992882 | | | 4:g.15992882G>A | ClinGen:CA2866577 | CN517202 not provided; | |
NM_006017.3(PROM1):c.1911+14G>A | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 79077926 | RCV000272696|RCV000309053|RCV000357535|RCV000363702|RCV001513432; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 15993857 | 15993857 | | | NC_000004.11:g.15993857C>T | ClinGen:CA2866604 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) | 8842 | PROM1 | Uncertain significance | 886059200 | RCV000269012|RCV000274850|RCV000333496|RCV000387939; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON | 4 | 15993911 | 15993911 | | | NC_000004.11:g.15993911C>T | ClinGen:CA10618197 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 140027620 | RCV000969187|RCV001150810|RCV001150811|RCV001150812|RCV001150809; | N | MedGen:C3661900|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00 | 4 | 15995626 | 15995626 | | | 4:g.15995626T>C | - | | |
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 199674847 | RCV001144700|RCV001150813|RCV001150814|RCV001300999|RCV001150815; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MedGen:C3661900|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00 | 4 | 15995639 | 15995639 | | | 4:g.15995639T>G | - | | |
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 201644238 | RCV001144701|RCV001144702|RCV001144703|RCV001146664|RCV002557089; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND | 4 | 15995667 | 15995667 | | | 4:g.15995667G>A | - | | |
NM_006017.3(PROM1):c.1579-6T>C | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 181261277 | RCV000277946|RCV000314370|RCV000363164|RCV000369060|RCV000956181; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND | 4 | 16000117 | 16000117 | | | NC_000004.11:g.16000117A>G | ClinGen:CA2866715 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1579-12A>C | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 370183490 | RCV001147571|RCV001147573|RCV001147572|RCV001147574|RCV002070791; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON | 4 | 16000123 | 16000123 | | | 4:g.16000123T>G | - | | |
NM_006017.3(PROM1):c.1578+9G>C | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 747638667 | RCV000261455|RCV000262727|RCV000320164|RCV000353950|RCV002057918; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND | 4 | 16002110 | 16002110 | | | NC_000004.11:g.16002110C>G | ClinGen:CA2866728 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 201870277 | RCV000283728|RCV000322364|RCV000323535|RCV000380476|RCV000594499; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND | 4 | 16002121 | 16002121 | | | NC_000004.11:g.16002121G>A | ClinGen:CA2866732 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 113895168 | RCV000153771|RCV000757689|RCV001144801|RCV001150902|RCV001150903|RCV001150904; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C18635 | 4 | 16002200 | 16002200 | | | 4:g.16002200G>A | ClinGen:CA180342 | CN169374 not specified; | |
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 200520976 | RCV000291776|RCV000344405|RCV000383774|RCV000400713|RCV001510571; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16002206 | 16002206 | | | NC_000004.11:g.16002206C>A | ClinGen:CA2866747 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 536622788 | RCV001144802|RCV001144803|RCV001144804|RCV001146761|RCV001326038; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16002229 | 16002229 | | | 4:g.16002229T>A | - | | |
NM_006017.3(PROM1):c.1450A>G (p.Met484Val) | 8842 | PROM1 | Uncertain significance | 574974703 | RCV002028275|RCV002486592; | N | MedGen:C3661900|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872; MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640; MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827; MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095,Or | 4 | 16008165 | 16008165 | | | 16008165 | - | | |
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 763710252 | RCV001146765|RCV001146763|RCV001146762|RCV001146764|RCV001442163; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND | 4 | 16008208 | 16008208 | | | 4:g.16008208C>T | - | | |
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) | 8842 | PROM1 | Uncertain significance | 1297490531 | RCV001146766|RCV001146767|RCV001146768|RCV001147665; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON | 4 | 16008228 | 16008228 | | | 4:g.16008228A>G | - | | |
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 779072238 | RCV000295344|RCV000312842|RCV000352517|RCV000401437|RCV001861230; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16008238 | 16008238 | | | NC_000004.11:g.16008238G>A | ClinGen:CA2866789 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1301+11C>A | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 189953160 | RCV001144910|RCV001151004|RCV001151005|RCV001151006; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND | 4 | 16010561 | 16010561 | | | 4:g.16010561G>T | - | | |
NM_006017.3(PROM1):c.1301+10T>A | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 192338518 | RCV001144911|RCV001144912|RCV001144913|RCV001144914; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MOND | 4 | 16010562 | 16010562 | | | 4:g.16010562A>T | - | | |
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) | 8842 | PROM1 | Uncertain significance | 200710798 | RCV000265119|RCV000266734|RCV000324262|RCV000358025|RCV001241226; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16010594 | 16010594 | | | NC_000004.11:g.16010594A>T | ClinGen:CA10620411 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1279T>C (p.Leu427=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 200710798 | RCV000935482|RCV001144916|RCV001146867|RCV001144915|RCV001144917; | N | MedGen:CN517202|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orp | 4 | 16010594 | 16010594 | | | 4:g.16010594A>G | - | | |
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) | 8842 | PROM1 | Uncertain significance | 886059202 | RCV000287882|RCV000326558|RCV000327805|RCV000384644; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16010602 | 16010602 | | | NC_000004.11:g.16010602A>G | ClinGen:CA10618199 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1218C>G (p.Leu406=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 886059203 | RCV000295982|RCV000348661|RCV000388013|RCV000394593|RCV001504867; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16010655 | 16010655 | | | NC_000004.11:g.16010655G>C | ClinGen:CA10617341 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 140682455 | RCV000431346|RCV001147772|RCV001147774|RCV001147773|RCV001151114; | N | MedGen:C3661900|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orp | 4 | 16010674 | 16010674 | | | 4:g.16010674A>G | ClinGen:CA2866836 | CN169374 not specified; | |
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 770268627 | RCV001151116|RCV001151118|RCV001151115|RCV001151117|RCV001858986; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON | 4 | 16010678 | 16010678 | | | 4:g.16010678G>A | - | | |
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 201748228 | RCV001044541|RCV001151119|RCV001151120|RCV001151121|RCV001145008; | N | MedGen:C3661900|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,O | 4 | 16010721 | 16010721 | | | 4:g.16010721C>G | - | | |
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) | 8842 | PROM1 | Pathogenic | 137853006 | RCV000005960|RCV000005961|RCV000005962|RCV000479499|RCV000504765|RCV000787649|RCV000787648|RCV001723543|RCV002496275; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MedGen:C3661900|Human Phenotype Ontology:HP:0000556,Human Phenotyp | 4 | 16014922 | 16014922 | | | NC_000004.11:g.16014922G>A | ClinGen:CA117645,UniProtKB:O43490#VAR_057961,OMIM:604365.0003 | C0339512 608051 Bull's eye macular dystrophy; | |
NM_006017.3(PROM1):c.1003-35A>C | 8842 | PROM1 | Benign | 2286458 | RCV001674013|RCV001789502|RCV001789499|RCV001789500|RCV001789501; | N | MedGen:C3661900|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0012796,MedGen:C2677516,OMIM:612095, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orpha | 4 | 16017898 | 16017898 | | | 16017898 | - | | |
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 202041422 | RCV000282344|RCV000304480|RCV000335053|RCV000399717|RCV002057919; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MOND | 4 | 16019985 | 16019985 | | | NC_000004.11:g.16019985C>A | ClinGen:CA2866910 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 182096110 | RCV000303463|RCV000313919|RCV000361771|RCV000365161|RCV000400435|RCV000950665; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MedGen:CN169374|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orp | 4 | 16020080 | 16020080 | | | 4:g.16020080T>G | ClinGen:CA2866931 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.843C>T (p.His281=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 374394451 | RCV000273099|RCV000276686|RCV000307126|RCV000364245|RCV002057920; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON | 4 | 16020105 | 16020105 | | | NC_000004.11:g.16020105G>A | ClinGen:CA2866936 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 369815021 | RCV000308028|RCV000347822|RCV000369682|RCV000398824|RCV001300200; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND | 4 | 16025002 | 16025002 | | | NC_000004.11:g.16025002C>T | ClinGen:CA2866970 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) | 8842 | PROM1 | Uncertain significance | 752543587 | RCV000262406|RCV000277700|RCV000311752|RCV000368672|RCV001350400; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON | 4 | 16025015 | 16025015 | | | NC_000004.11:g.16025015C>T | ClinGen:CA10620390 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.717C>T (p.Gly239=) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 763697898 | RCV000266664|RCV000315947|RCV000324190|RCV000372846|RCV001454692; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MON | 4 | 16025016 | 16025016 | | | NC_000004.11:g.16025016G>A | ClinGen:CA2866976 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 376198840 | RCV000998230|RCV001149511|RCV001147961|RCV001147962|RCV001147963; | N | MedGen:C3661900|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00 | 4 | 16025935 | 16025935 | | | 4:g.16025935G>A | - | | |
NM_006017.3(PROM1):c.631-14T>C | 8842 | PROM1 | Benign/Likely benign | 16892824 | RCV000287975|RCV000314928|RCV000345306|RCV000396849|RCV001518834|RCV002502339; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16025995 | 16025995 | | | NC_000004.11:g.16025995A>G | ClinGen:CA2867015 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 140872693 | RCV000171375|RCV000299552|RCV000348573|RCV000356757|RCV000390528|RCV000765766|RCV000987426|RCV001257791; | N | MedGen:C3661900|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00 | 4 | 16026841 | 16026841 | | | 4:g.16026841G>C | ClinGen:CA236211 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) | 8842 | PROM1 | Uncertain significance | 369512467 | RCV000268102|RCV000298692|RCV000360430|RCV000390262|RCV001861231; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON | 4 | 16026889 | 16026889 | | | NC_000004.11:g.16026889G>A | ClinGen:CA2867045 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.380G>T (p.Gly127Val) | 8842 | PROM1 | Uncertain significance | 1733212554 | RCV001145211|RCV001145212|RCV001145210|RCV001147172; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MON | 4 | 16035056 | 16035056 | | | 4:g.16035056C>A | - | | |
NM_006017.3(PROM1):c.376G>A (p.Val126Met) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 199556426 | RCV001147175|RCV001147176|RCV001147173|RCV001147174|RCV001241210; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16035060 | 16035060 | | | 4:g.16035060C>T | - | | |
NM_006017.3(PROM1):c.303+6G>A | 8842 | PROM1 | Benign | 2078622 | RCV000253413|RCV000271856|RCV000321055|RCV000329200|RCV000359497|RCV000836050|RCV001789282; | N | MedGen:CN169374|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657,O | 4 | 16037352 | 16037352 | | | NC_000004.11:g.16037352C>T | ClinGen:CA2867118 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.277-15C>T | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 372599685 | RCV000289511|RCV000332880|RCV000381583|RCV000389815|RCV002057921; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16037399 | 16037399 | | | NC_000004.11:g.16037399G>A | ClinGen:CA2867123 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.276+15G>T | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 766012920 | RCV000278099|RCV000295776|RCV000350668|RCV000394477; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16040554 | 16040554 | | | 4:g.16040554C>A | ClinGen:CA2867130 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.228G>A (p.Leu76=) | 8842 | PROM1 | Benign | 76963591 | RCV000081348|RCV000302705|RCV000337715|RCV000362013|RCV000399220|RCV001518003; | N | MedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00 | 4 | 16040617 | 16040617 | | | 4:g.16040617C>T | ClinGen:CA148437 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 201701647 | RCV000273204|RCV000308324|RCV000363045|RCV000400360|RCV001439949; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16077349 | 16077349 | | | 4:g.16077349T>C | ClinGen:CA2867174 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 755064227 | RCV001145316|RCV001145315|RCV001145317|RCV001147260|RCV001366102; | N | Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON | 4 | 16077372 | 16077372 | | | 4:g.16077372C>T | - | | |
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) | 8842 | PROM1 | Uncertain significance | 778896066 | RCV000273932|RCV000327985|RCV000333734|RCV000368597|RCV001850847; | N | MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MON | 4 | 16077375 | 16077375 | | | 4:g.16077375A>G | ClinGen:CA2867181 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.129C>T (p.Thr43=) | 8842 | PROM1 | Benign | 10033086 | RCV000252686|RCV000279950|RCV000316444|RCV000375651|RCV000388410|RCV001509696; | N | MedGen:CN169374|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051,Orph | 4 | 16077401 | 16077401 | | | 4:g.16077401G>A | ClinGen:CA2867187 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.105A>G (p.Glu35=) | 8842 | PROM1 | Uncertain significance | 886059205 | RCV000280677|RCV000286424|RCV000340399|RCV000398030; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16077425 | 16077425 | | | 4:g.16077425T>C | ClinGen:CA10618201 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.15C>T (p.Leu5=) | 8842 | PROM1 | Benign | 10033189 | RCV000249658|RCV000277416|RCV000312520|RCV000367292|RCV000398887|RCV001512766; | N | MedGen:CN169374|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:00 | 4 | 16077515 | 16077515 | | | 4:g.16077515G>A | ClinGen:CA2867201 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.-25T>A | 8842 | PROM1 | Conflicting interpretations of pathogenicity | 149845694 | RCV000259686|RCV000313534|RCV000319521|RCV000354399; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|MOND | 4 | 16077554 | 16077554 | | | 4:g.16077554A>T | ClinGen:CA2867210 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.-127A>G | 8842 | PROM1 | Uncertain significance | 886059206 | RCV000289358|RCV000290663|RCV000344310|RCV000384989|RCV002480212; | N | MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16077656 | 16077656 | | | 4:g.16077656T>C | ClinGen:CA10620456 | CN239348 Cone-Rod Dystrophy, Dominant; | |
NM_006017.3(PROM1):c.-168G>A | 8842 | PROM1 | Uncertain significance | 180926533 | RCV000261622|RCV000296943|RCV000356355|RCV000401292; | N | MONDO:MONDO:0011370,MedGen:C1863534,OMIM:603786, Orphanet:827|MONDO:MONDO:0012983,MedGen:C2675210,OMIM:612657, Orphanet:1872|MONDO:MONDO:0011957,MedGen:C4749334,OMIM:608051, Orphanet:319640|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D0121 | 4 | 16077697 | 16077697 | | | 4:g.16077697C>T | ClinGen:CA10618203 | CN239348 Cone-Rod Dystrophy, Dominant; | |